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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-160428637-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=160428637&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 160428637,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_004219.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "NM_004219.4",
"protein_id": "NP_004210.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352433.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004219.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "ENST00000352433.10",
"protein_id": "ENSP00000344936.5",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004219.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352433.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "ENST00000393964.1",
"protein_id": "ENSP00000377536.1",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393964.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.610C>T",
"hgvs_p": "p.Leu204Leu",
"transcript": "ENST00000922255.1",
"protein_id": "ENSP00000592314.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 217,
"cds_start": 610,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922255.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "NM_001282382.1",
"protein_id": "NP_001269311.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282382.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "NM_001282383.1",
"protein_id": "NP_001269312.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282383.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "ENST00000520452.5",
"protein_id": "ENSP00000430642.1",
"transcript_support_level": 3,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520452.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "ENST00000922254.1",
"protein_id": "ENSP00000592313.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922254.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "ENST00000922260.1",
"protein_id": "ENSP00000592319.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922260.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "ENST00000922261.1",
"protein_id": "ENSP00000592320.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922261.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "ENST00000922263.1",
"protein_id": "ENSP00000592322.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922263.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu",
"transcript": "ENST00000922264.1",
"protein_id": "ENSP00000592323.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 202,
"cds_start": 565,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922264.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Leu186Leu",
"transcript": "ENST00000922252.1",
"protein_id": "ENSP00000592311.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 199,
"cds_start": 556,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922252.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Leu186Leu",
"transcript": "ENST00000922257.1",
"protein_id": "ENSP00000592316.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 199,
"cds_start": 556,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922257.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.550C>T",
"hgvs_p": "p.Leu184Leu",
"transcript": "ENST00000922256.1",
"protein_id": "ENSP00000592315.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 197,
"cds_start": 550,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922256.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"transcript": "ENST00000922258.1",
"protein_id": "ENSP00000592317.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 162,
"cds_start": 445,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922258.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Leu136Leu",
"transcript": "ENST00000922262.1",
"protein_id": "ENSP00000592321.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 149,
"cds_start": 406,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922262.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Leu96Leu",
"transcript": "ENST00000922253.1",
"protein_id": "ENSP00000592312.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 109,
"cds_start": 286,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922253.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "c.127C>T",
"hgvs_p": "p.Leu43Leu",
"transcript": "ENST00000922259.1",
"protein_id": "ENSP00000592318.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 56,
"cds_start": 127,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922259.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"hgvs_c": "n.568C>T",
"hgvs_p": null,
"transcript": "ENST00000519287.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519287.1"
}
],
"gene_symbol": "PTTG1",
"gene_hgnc_id": 9690,
"dbsnp": "rs7335",
"frequency_reference_population": 0.003779397,
"hom_count_reference_population": 209,
"allele_count_reference_population": 6100,
"gnomad_exomes_af": 0.00209068,
"gnomad_genomes_af": 0.0199879,
"gnomad_exomes_ac": 3056,
"gnomad_genomes_ac": 3044,
"gnomad_exomes_homalt": 104,
"gnomad_genomes_homalt": 105,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.425,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_004219.4",
"gene_symbol": "PTTG1",
"hgnc_id": 9690,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Leu189Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}